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Published in: Archives of Dermatological Research 9/2012

01-11-2012 | Short Communication

The association between GJB2 gene polymorphism and psoriasis: a verification study

Authors: Que-Ping liu, Li-Sha Wu, Fang-Fang Li, Shuang Liu, Juan Su, Ye-Hong Kuang, Chen Chen, Xiao-Yun Xie, Ming-Hao Jiang, Shuang zhao, Ming-Liang Chen, Xiang Chen

Published in: Archives of Dermatological Research | Issue 9/2012

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Abstract

Psoriasis is a chronic inflammatory skin disease with multifactorial etiology. Connexin 26 (Cx26), an important gap junction protein, has been found highly expressed in plaques of psoriasis. Recently, genome wide association studies (GWAS) identified one new single nucleotide polymorphism (SNP) in GJB2 gene coding for Cx26 protein associated with psoriasis in Chinese Han population. In this paper, we verified the GWAS data in Chinese Han population. Here we genotyped the polymorphism of GJB2 rs3751385:C>T in 371 psoriasis patients and 330 healthy controls in Chinese Han population using polymerase chain reaction restriction fragment length polymorphism assay (PCR–RFLP). Our case–control assay indicated decreased frequency of the GJB2 rs3751385 C allele in psoriasis patients compared with that in the healthy controls [p = 6.02 × 10−5, Odds ratio (OR) = 0.793, 95 % confidence interval (CI) 0.706–0.889]. The result suggested that GJB2 gene polymorphism rs3751385:C>T was associated with psoriasis susceptibility of Chinese Han population.
Literature
1.
go back to reference Ahmad S, Martin PE, Evans WH (2001) Assembly of gap junction channels: mechanism, effects of calmodulin antagonists and identification of connexin oligomerization determinants. Eur J Biochem 268:4544–4552PubMedCrossRef Ahmad S, Martin PE, Evans WH (2001) Assembly of gap junction channels: mechanism, effects of calmodulin antagonists and identification of connexin oligomerization determinants. Eur J Biochem 268:4544–4552PubMedCrossRef
2.
go back to reference Conne B, Stutz A, Vassalli JD (2000) The 3′ untranslated region of messenger RNA: a molecular ‘hotspot’ for pathology? Nat Med 6:637–641PubMedCrossRef Conne B, Stutz A, Vassalli JD (2000) The 3′ untranslated region of messenger RNA: a molecular ‘hotspot’ for pathology? Nat Med 6:637–641PubMedCrossRef
3.
go back to reference Di WL, Rugg EL, Leigh IM, Kelsell DP (2001) Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J Invest Dermatol 117:958–964PubMedCrossRef Di WL, Rugg EL, Leigh IM, Kelsell DP (2001) Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J Invest Dermatol 117:958–964PubMedCrossRef
4.
go back to reference Fan X, Yang S, Huang W, Wang ZM, Sun LD, Liang YH et al (2008) Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet 4:e1000038PubMedCrossRef Fan X, Yang S, Huang W, Wang ZM, Sun LD, Liang YH et al (2008) Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet 4:e1000038PubMedCrossRef
5.
go back to reference Gerido DA, White TW (2004) Connexin disorders of the ear, skin, and lens. Biochem Biophys Acta 1662:159–170PubMedCrossRef Gerido DA, White TW (2004) Connexin disorders of the ear, skin, and lens. Biochem Biophys Acta 1662:159–170PubMedCrossRef
6.
go back to reference Griffiths CE, Barker JN (2007) Pathogenesis and clinical features of psoriasis. Lancet 370:263–271PubMedCrossRef Griffiths CE, Barker JN (2007) Pathogenesis and clinical features of psoriasis. Lancet 370:263–271PubMedCrossRef
7.
go back to reference Grzybowska EA, Wilczynska A, Siedlecki JA (2001) Regulatory functions of 3′UTRs. Biochem Biophys Res Commun 288:291–295PubMedCrossRef Grzybowska EA, Wilczynska A, Siedlecki JA (2001) Regulatory functions of 3′UTRs. Biochem Biophys Res Commun 288:291–295PubMedCrossRef
8.
go back to reference Iizuka H, Takahashi H, Honma M, Ishida-Yamamoto A (2004) Unique keratinization process in psoriasis: late differentiation markers are abolished because of the premature cell death. J Dermatol 31:271–276PubMed Iizuka H, Takahashi H, Honma M, Ishida-Yamamoto A (2004) Unique keratinization process in psoriasis: late differentiation markers are abolished because of the premature cell death. J Dermatol 31:271–276PubMed
9.
go back to reference Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 8:141–144PubMedCrossRef Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 8:141–144PubMedCrossRef
10.
go back to reference Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389PubMedCrossRef Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389PubMedCrossRef
11.
go back to reference Labarthe MP, Bosco D, Saurat JH, Meda P, Salomon D (1998) Upregulation of connexin 26 between keratinocytes of psoriatic lesions. J Invest Dermatol 111:72–76PubMedCrossRef Labarthe MP, Bosco D, Saurat JH, Meda P, Salomon D (1998) Upregulation of connexin 26 between keratinocytes of psoriatic lesions. J Invest Dermatol 111:72–76PubMedCrossRef
12.
go back to reference Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM et al (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 8:1237–1243PubMedCrossRef Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM et al (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 8:1237–1243PubMedCrossRef
13.
go back to reference Mazumder B, Seshadri V, Fox PL (2003) Translational control by the 3′-UTR: the ends specify the means. Trends Biochem Sci 28:91–98PubMedCrossRef Mazumder B, Seshadri V, Fox PL (2003) Translational control by the 3′-UTR: the ends specify the means. Trends Biochem Sci 28:91–98PubMedCrossRef
14.
go back to reference Mendell JT, Dietz HC (2001) When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107:411–414PubMedCrossRef Mendell JT, Dietz HC (2001) When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107:411–414PubMedCrossRef
16.
go back to reference Richard G, Brown N, Ishida-Yamamoto A, Krol A (2004) Expanding the phenotypic spectrum of Cx26 disorders: bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 123:856–863PubMedCrossRef Richard G, Brown N, Ishida-Yamamoto A, Krol A (2004) Expanding the phenotypic spectrum of Cx26 disorders: bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 123:856–863PubMedCrossRef
17.
go back to reference Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M et al (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 70:1341–1348PubMedCrossRef Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M et al (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 70:1341–1348PubMedCrossRef
18.
go back to reference Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL et al (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103:393–399PubMedCrossRef Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL et al (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103:393–399PubMedCrossRef
19.
go back to reference Salomon D, Masgrau E, Vischer S, Ullrich S, Dupont E, Sappino P et al (1994) Topography of mammalian connexins in human skin. J Invest Dermatol 103:240–247PubMedCrossRef Salomon D, Masgrau E, Vischer S, Ullrich S, Dupont E, Sappino P et al (1994) Topography of mammalian connexins in human skin. J Invest Dermatol 103:240–247PubMedCrossRef
20.
go back to reference Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH et al (2010) Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet 42:1005–1009PubMedCrossRef Sun LD, Cheng H, Wang ZX, Zhang AP, Wang PG, Xu JH et al (2010) Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet 42:1005–1009PubMedCrossRef
21.
go back to reference van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 118:724–727PubMedCrossRef van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 118:724–727PubMedCrossRef
Metadata
Title
The association between GJB2 gene polymorphism and psoriasis: a verification study
Authors
Que-Ping liu
Li-Sha Wu
Fang-Fang Li
Shuang Liu
Juan Su
Ye-Hong Kuang
Chen Chen
Xiao-Yun Xie
Ming-Hao Jiang
Shuang zhao
Ming-Liang Chen
Xiang Chen
Publication date
01-11-2012
Publisher
Springer-Verlag
Published in
Archives of Dermatological Research / Issue 9/2012
Print ISSN: 0340-3696
Electronic ISSN: 1432-069X
DOI
https://doi.org/10.1007/s00403-012-1273-x

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